Title: | Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum |
Journal : | Pediatrics, 140, S1 |
Authors: | Kronn DF, Author ; Day-Salvatore D ; Hwu WL ; Jones SA ; Nakamura K ; Okuyama T ; Swoboda KJ ; Kishnani PS |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p S24 |
Languages: | English |
Keywords : | acid alpha-glucosidase ; antibodies ; cardiomyopathy ; cardiovascular management ; children ; clinical presentation ; disease evolution ; early diagnosis ; early-onset Pompe disease ; enzymotherapy ; GAA gene ; genetic diagnosis ; immune response ; immunomodulation ; late-onset Pompe disease ; medical treatment ; neonatal screening ; newborn infants ; Pompe disease ; respiratory failure ; respiratory management |
Pubmed / DOI : | DOI : 10.1542/peds.2016-0280E / Pubmed : 29162675 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29162675 |